부산대학교 도서관

Baynam, GS; Groft, S; van der Westhuizen, FH; Gassman, SD; du Plessis, K; Coles, EP; Selebatso, E; Selebatso, M; Gaobinelwe, B; Selebatso, T; Joel, D; Llera, VA; Vorster, BC; Wuebbels, B; Djoudalbaye, B; Austin, CP; Kumuthini, J; Forman, J; Kaufmann, P; Chipeta, J; Gavhed, D; Larsson, A; Stojiljkovic, M; Nordgren, A; Roldan, EJA; Taruscio, D; Wong-Rieger, D; Nowak, K; Bilkey, GA; Easteal, S; Bowdin, S; Reichardt, JKV; Beltran, S; Kosaki, K; van Karnebeek, CDM; Gong, MC; Zhang, SY; Mehrian-Shai, R; Adams, DR; Puri, RD; Zhang, F; Pachter, N; Muenke, M; Nellaker, C; Gahl, WA; Cederroth, H; Broley, S; Schoonen, M; Boycott, KM; Posada, M

Nature genetics. 52(1):21-26

Baynam GS; Baynam, Gareth S

Wiley-Blackwell (Malden, Massachusetts) 3/19/2012; v.196 n.5, 313-313. (1p)

Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Blair J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Devkota B; Illumina Inc, San Diego, California, USA.; Fortunato S; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Clark D; Natera, Inc., Austin, Texas, USA.; Lawrence A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kim J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Do W; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Semeo B; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Katz O; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Mehta D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Yamamoto N; Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.; Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA.; McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Xu D; Hematologics Inc, Seattle, Washington, USA.; Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.; Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Zhe Z; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Allen B; Fullerton Genetics Center, Mission Health, Asheville, North Carolina, USA.; Angula MA; Department of Pediatrics, NYU Langone Hospital-Long Island, Mineola, New York, USA.; Anyane-Yeboa K; Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Argente J; Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la obesidad y nutrición (CIBEROBN) and IMDEA Food Institute, Madrid, Spain.; Arn PH; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, Florida, USA.; Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada.; Basel-Salmon L; Rabin Medical Center-Beilinson Hospital, Raphael Recanati Genetics Institute, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA.; Bruegger D; Department of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA.; Ch'ng GS; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, Ontario, Canada.; Clark R; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.; Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Dave U; R & D MILS International India, Mumbai, India.; DeBaere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Gripp KW; Nemours Children's Health, Wilmington, Delaware, USA.; Greenstein R; University of Connecticut Health Center, Farmington, Connecticut, USA.; Gupta N; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.; Heidenreich R; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.; Hoffman J; Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts, USA.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Jones KL; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA.; Jones MC; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Kogan J; Division of Genetics, Advocate Children's Hospital, Park Ridge, Illinois, USA.; Lace B; Children's Clinical University Hospital, Riga, Latvia.; Leroy J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; McDonald M; Duke University Medical Center, Durham, North Carolina, USA.; Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Mendelsohn N; Complex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA.; Micule I; Children's Clinical University Hospital, Riga, Latvia.; Moeschler J; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.; Ohashi K; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada.; Powell CM; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.; Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.; Raskin S; Genetika-Centro de aconselhamento e laboratório de genética, Curitiba, Brazil.; Roeder E; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA.; Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France.; Rope AF; Genome Medical, South San Francisco, California, USA.; Sangha K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Schneider A; Department of Pediatrics and Oculogenetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.; Shalev S; Rappaport Faculty of Medicine, Technion, The Genetics Institute, Emek Medical Center, Afula, Haifa, Israel.; Siu V; London Health Sciences Centre, London, Ontario, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine, USA.; Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, T.C. Thompson Children's Hospital, Chattanooga, Tennessee, USA.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Toimie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK.; Toriello H; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.; Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Young T; Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Research to Prevent Blindness Inc, New York, New York, USA.; Loomes KM; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Pipan M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Behavioral Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Harrington AT; Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zackai E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Conlin L; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; McEldrew D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.; Ramos F; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Zaragoza, Spain.; Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.; Musio A; Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa.; Kline AD; Greater Baltimore Medical Centre, Harvey Institute of Human Genetics, Baltimore, Maryland, USA.; Izumi K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Sarna M; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Pereira GF; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.; Foo D; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Baynam GS; King Edward Memorial Hospital, Western Australian Department of Health, Subiaco, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, The University of Western Australia, Crawley, Western Australia, Australia.; Regan AK; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; School of Nursing and Health Professions, University of San Francisco, San Francisco, California, USA.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk.; Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland.; Baynam GS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Beckmann JS; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.; Buske OJ; PhenoTips, Toronto, Ontario, Canada.; Callahan TJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Chute CG; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA.; Courtot M; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Danis D; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Elemento O; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Essenwanger A; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.; Gargano MA; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Groza T; EMBL-EBI, Cambridge, UK.; Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Kaliyaperumal R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Lloyd KCK; Mouse Biology Program, University of California Davis, Davis, CA, USA.; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA.; Khalifa A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.; Krawitz PM; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany.; Köhler S; Ada Health GmbH, Berlin, Germany.; Laraway BJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Lehväslaiho H; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland.; Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; McMurry JA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia.; Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Munoz-Torres MC; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Ogishima S; Tohoku University, INGEM, Sendai, Japan.; Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Pontikos N; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, UK.; Queralt-Rosinach N; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Roos M; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Schofield PN; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.; The Alan Turing Institute, London, UK.; Seelow D; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Siapos A; Lifebit Biotech Ltd., London, UK.; Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Smith LD; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada.; Steinhaus R; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sundaramurthi JC; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Swietlik EM; 40Medicine Department, University of Cambridge, Cambridge, UK.; Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.; Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK.; Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Vasilevsky NA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Warner JL; Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.; Weiland C; Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany.; Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org.; Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.

Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: PubMed not MEDLINE; MEDLINE

Hansen M; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Greenop K; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Yim D; Department of Paediatric Cardiology, Perth Children's Hospital, Perth, Western Australia, Australia.; Ramsay J; Department of Paediatric Cardiology, Perth Children's Hospital, Perth, Western Australia, Australia.; Thomas Y; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Baynam GS; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medicine, University of Western Australia, Perth, Western Australia, Australia.

Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Matthews HS; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium. harry.matthews@kuleuven.be.; Medical Imaging Research Center, UZ Leuven, Herestraat 49, 3000, Leuven, Belgium. harry.matthews@kuleuven.be.; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia. harry.matthews@kuleuven.be.; Palmer RL; School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia.; Baynam GS; School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia.; Faculty of Medicine, Notre Dame University, Fremantle, Australia.; Quarrell OW; Dept Clinical Genetics, Sheffield Children's NHS Trust, OPDII Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.; Klein OD; Program in Craniofacial Biology, Departments of Orofacial Sciences and Pediatrics, and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Spritz RA; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA.; Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.; Walsh S; Department of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN, 46202, USA.; Shriver M; Department of Anthropology, Pennsylvania State University, State College, PA, 16802, USA.; Weinberg SM; Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15219, USA.; Hallgrimsson B; Department of Cell Biology & Anatomy, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2T 4N1, Canada.; Hammond P; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium.; Penington AJ; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia.; Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, 3052, Australia.; Peeters H; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium.; Claes PD; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium.; Medical Imaging Research Center, UZ Leuven, Herestraat 49, 3000, Leuven, Belgium.; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, 3000, Leuven, Belgium.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Field M; Cancer Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; GOLD Service, Hunter-New England Health Service, Newcastle, New South Wales, Australia.; Baynam GS; Department of Health, Genetic Services of Western Australia, Perth, Western Australia, Australia.; Beilby J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.; Berarducci M; Health Education and Training Institute (HETI), NSW Health Service, Sydney, New South Wales, Australia.; Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Boughtwood T; Australian Genomics, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Cusack MB; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Fitzgerald V; Speciality Services and Technology Evaluation Unit, Strategic Reform and Planning Branch, NSW Ministry of Health, Sydney, New South Wales, Australia.; Fletcher J; Department of Paediatrics, The Tweed Hospital, Tweed Heads, New South Wales, Australia.; Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Grainger N; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Kirk E; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Sydney, New South Wales, Australia.; Lundie B; Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.; McGregor L; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Parasivam G; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Tyrell V; Children's Cancer Institute. Randwick, Sydney, New South Wales, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, Tasmania, Australia.; School of Medicine, The University of Tasmania, Hobart, Tasmania, Australia.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; S L Ma A; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Timo.Lassmann@telethonkids.org.au.; Francis RW; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Weeks A; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Tang D; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Jamieson SE; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Broley S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Dreyer L; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Goldblatt J; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Groza T; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Kamien B; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Kiraly-Borri C; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; McKenzie F; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, University of Western Australia, Perth, WA, Australia.; Murphy L; Rare Voices Australia, Sydney, Australia.; Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Pathak G; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Poulton C; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Samanek A; GaRDN Genetics and Rare Diseases Network, Booragoon, WA, Australia.; Skoss R; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Slee J; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Townshend S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Ward M; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Baynam GS; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, University of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA, Australia.; Blackwell JM; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Jenefer.Blackwell@telethonkids.org.au.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Baynam GS; Genetic Services of Western Australia and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA.; Wicking C; Rare Voices Australia, Brisbane, QLD.; Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Sydney, NSW.; University of Sydney, Sydney, NSW.; Millis N; Rare Voices Australia, Brisbane, QLD.

Publisher: Australasian Medical Publishing Co Country of Publication: Australia NLM ID: 0400714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1326-5377 (Electronic) Linking ISSN: 0025729X NLM ISO Abbreviation: Med J Aust Subsets: MEDLINE